Condition | Clinical presentation/examination | Tests | Notes |
Dyslipidemia | Asymptomatic or family history of CVD | Screening test:
Timing:
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Hypertension | Asymptomatic; detected on routine monitoring | Screening test:
Timing:
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Follow-up tests:
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Metabolic dysfunction-associated steatotic liver disease (MASLD; formerly termed nonalcoholic fatty liver disease) | Generally asymptomatic; may have RUQ tenderness or hepatomegaly | Screening test:
Timing:
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Follow-up tests:
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Gallbladder disease | Recurrent RUQ abdominal pain, sometimes with fatty food intolerance, nausea, vomiting, or jaundice |
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Type 2 diabetes mellitus or impaired glucose tolerance | Often asymptomatic; may present with urinary frequency, nocturia, polydipsia, or polyuria | Screening test:
Indications:
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Sleep apnea | Habitual snoring, mouth breathing, daytime sleepiness, or inattentive behaviors and/or adenotonsillar hypertrophy | Screening:
Diagnostic test:
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SCFE | Unexplained limp or aching pain in hip, groin, thigh, or knee |
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Varus (Blount disease) or valgus deformity | Varum (bow legs) or varus (knock knees) deformity on examination, with or without knee pain |
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Polycystic ovary syndrome | Menstrual irregularity, excessive acne, hirsutism | Initial tests:
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Impaired kidney function | Asymptomatic | Screening:
Indications:
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Precocious puberty | Appearance of secondary sexual characteristics <8 years (females) or <9 years (males) | Initial tests:
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Pseudotumor cerebri | Headaches (especially morning), nausea/vomiting, blurred or decreased vision | Initial test:
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ABPM: ambulatory blood pressure monitoring; ALT: alanine aminotransferase; AST: aspartate aminotransferase; BP: blood pressure; BUN: blood urea nitrogen; CBC: complete blood count; CVD: cardiovascular disease; DHEAS: dehydroepiandrosterone sulfate; FSH: follicle-stimulating hormone; GGTP: gamma-glutamyl transpeptidase; HbA1c: glycated hemoglobin; hCG: human chorionic gonadotropin; LH: luteinizing hormone; MASH: metabolic dysfunction-associated steatohepatitis; MASLD: metabolic dysfunction-associated steatotic liver disease; RUQ: right upper quadrant; SCFE: slipped capital femoral epiphysis; TSH: thyroid-stimulating hormone; UACR: urine albumin-to-creatinine ratio; ULN: upper limit of normal.
* For interpretation of serum ALT, use the ULN of 22 units/L for females and 26 units/L for males, as determined from healthy lean children in the National Health and Nutrition Examination Survey[4]. Note that these values are substantially lower than the ULNs reported in most pediatric hospital laboratories.
¶ Screening laboratory tests for suspected MASLD include a CBC with platelets, HbA1c, and lipid panel.
Δ Risk factors for type 2 diabetes include: family history of type 2 diabetes, high-risk race/ethnicity (Native American, African American, Latino, Asian American, Pacific Islander), signs of insulin resistance (eg, acanthosis nigricans), or conditions associated with diabetes (hypertension, dyslipidemia, polycystic ovary syndrome).
◊ Symptoms suggesting obstructive sleep apnea include persistent snoring (most nights, most sleeping positions), observed gasping or apneas, nocturnal enuresis, and morning headaches.
§ Screening for impaired kidney function is recommended for patients with type 2 diabetes[5]. If the initial test is abnormal, repeat with confirmation in 2 out of 3 samples over 6 months. UpToDate authors also suggest this screening for patients with other risk factors for developing chronic kidney disease, including hypertension or severe obesity.